Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation|
|Citation:||American Journal of Human Genetics, 2003; 73(5):1120-1130|
|Publisher:||Univ Chicago Press|
|Kathryn P. Burdon, James D. McKay, Michéle M. Sale, Isabelle M. Russell-Eggitt, David A. Mackey, M. Gabriela Wirth, James E. Elder, Alan Nicoll, Michael P. Clarke, Liesel M. FitzGerald, James M. Stankovich, Marie A. Shaw, Shiwani Sharma, Srecko Gajovic, Peter Gruss, Shelley Ross, Paul Thomas, Anne K. Voss, Tim Thomas, Jozef Gécz, and Jamie E. Craig|
|Abstract:||Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.|
|Keywords:||Animals; Humans; Mice; Tooth Abnormalities; Cataract; Syndrome; Abnormalities, Multiple; Nuclear Proteins; Gene Expression Profiling; Pedigree; In Situ Hybridization; Phenotype; Mutation; Introns; Exons; Gene Expression Regulation, Developmental; Amino Acid Sequence; Molecular Sequence Data; Intellectual Disability; RNA, Messenger; Australia; Female; Male|
|Appears in Collections:||Paediatrics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.